Term Name: Luo-Schoch-Yamamoto syndrome
Synonyms: LUSYAM
Definition: A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25.
Ontology: Human Disease [DOID:0070416]   ( DOID:0070416 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder